Canonical Allele Identifier: CA388922496

Gene: SLC7A7

Linked Data

• MyVariant Identifiers: chr14:g.23243650G>C (hg19) ; chr14:g.22774441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22774441G>C , CM000676.2:g.22774441G>C	GRCh38
NC_000014.8:g.23243650G>C , CM000676.1:g.23243650G>C	GRCh37
NC_000014.7:g.22313490G>C	NCBI36
NG_012851.2:g.60380C>G , LRG_695:g.60380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.1158C>G	ENSP00000452551.2:p.Ser386Arg
ENST00000698939.1:c.*224C>G	ENSP00000514047.1:n.*224C>G
ENST00000698940.1:n.220C>G
ENST00000397532.9:c.1158C>G	ENSP00000380666.4:p.Ser386Arg
ENST00000674313.1:c.1158C>G MANE Select	ENSP00000501493.1:p.Ser386Arg
ENST00000285850.11:c.1158C>G	ENSP00000285850.7:p.Ser386Arg
ENST00000397528.8:c.1158C>G	ENSP00000380662.4:p.Ser386Arg
ENST00000397529.6:c.1158C>G	ENSP00000380663.2:p.Ser386Arg
ENST00000397532.7:c.1158C>G	ENSP00000380666.3:p.Ser386Arg
ENST00000554061.5:n.829C>G
ENST00000554517.5:c.360C>G	ENSP00000452083.1:p.Ser120Arg
ENST00000555678.1:n.419C>G
ENST00000555702.5:c.1158C>G	ENSP00000451881.1:p.Ser386Arg
ENST00000556287.5:c.*121C>G	ENSP00000450715.1:n.*121C>G
ENST00000556350.1:c.240-325C>G
NM_001126105.2:c.1158C>G , LRG_695t1:c.1158C>G	NP_001119577.1:p.Ser386Arg
NM_001126106.2:c.1158C>G , LRG_695t2:c.1158C>G	NP_001119578.1:p.Ser386Arg
NR_040448.1:n.1773C>G
XM_006720302.1:c.1158C>G	XP_006720365.1:p.Ser386Arg
XM_011537298.1:c.1158C>G	XP_011535600.1:p.Ser386Arg
XM_011537299.1:c.1158C>G	XP_011535601.1:p.Ser386Arg
XM_006720302.2:c.1158C>G	XP_006720365.1:p.Ser386Arg
XM_011537298.3:c.1158C>G	XP_011535600.1:p.Ser386Arg
NM_001126105.3:c.1158C>G	NP_001119577.1:p.Ser386Arg
NM_001126106.4:c.1158C>G	NP_001119578.1:p.Ser386Arg
NM_003982.4:c.1158C>G MANE Select	NP_003973.3:p.Ser386Arg